Microsatellites are widely used in population genetics, but their evolutionary dynamics remain poorly understood. It is unclear whether microsatellite loci drift in length over time. We identify more than 27 million microsatellites using a novel and unique dataset of modern and ancient Adelie penguin genomes along with data from 63 published chordate genomes. We investigate microsatellite evolutionary dynamics over two time scales: one based on the Adelie penguin samples dating to approximately 46.5...
Wed Mar 11, 2020 02:00
Discrepancies in mitochondrial and nuclear genetic data are often interpreted as evidence of hybridisation. We re-examined reports of hybridisation in three cryptic stingless bee species in the genus Tetragonula in South East Queensland, Australia (T. carbonaria, T. davenporti, and T. hockingsi). Previous studies on this group using microsatellites proposed that rare hybrids do occur. In contrast, we find that allele frequencies at neutral regions of the nuclear genome (both microsatellites and random...
Wed Mar 11, 2020 02:00
The origin of modern human and their migration across the world is one of the most debated topics for the decades. There exist two different hypotheses, recent African origin and multi-regional evolution, based on the genomic studies, haplogroups, archaeological records, cultural behaviors, palaeontology studies, etc. Various studies placed the modern humans in a phylogenetic tree to depict the relationships among them. The debate for determining those regions of Africa which witnessed the first...
Wed Mar 11, 2020 02:00
Among the macroevolutionary drivers of molecular evolutionary rates, metabolic demands and environmental energy have been a central topic of discussion. The large number of studies examining these associations have found mixed results, and have rarely explored the interactions among various factors impacting molecular evolutionary rates. Taking the diverse avian family Furnariidae as a case study, we examined the association between several estimates of molecular evolutionary rates with a proxy of...
Wed Mar 11, 2020 02:00
A long standing hypothesis is that divergence between humans and chimpanzees might have been driven more by regulatory level adaptions than by protein sequence adaptations. This has especially been suggested for regulatory adaptions in the evolution of the human brain. There is some support for this hypothesis, but it has been limited by the lack of a reliable and powerful way to detect positive selection on regulatory sequences. We present a new method to detect positive selection on transcription...
Wed Mar 11, 2020 02:00
Correspondence between evolution and development has been discussed for more than two centuries1. Recent work reveals that phylogeny-ontogeny correlations are indeed present in developmental transcriptomes of eukaryotic clades with complex multicellularity. Nevertheless, it has been largely ignored that the pervasive presence of phylogeny-ontogeny correlations is a hallmark of development in eukaryotes. This perspective opens a possibility to look for similar parallelisms in biological settings where...
Wed Mar 11, 2020 02:00
Genetic variation is the fuel of evolution, with standing genetic variation especially important for short-term evolution and local adaptation. To date, studies of spatio-temporal patterns of genetic variation in natural populations have been challenging, as comprehensive sampling is logistically difficult, and sequencing of entire populations costly. Here, we address these issues using a collaborative approach, sequencing 48 pooled population samples from 32 locations, and perform the first continent-wide...
Wed Mar 11, 2020 02:00
Humans are sexually dimorphic: on average men significantly differ from women in body build and composition, craniofacial structure, and voice pitch, likely mediated in part by developmental testosterone exposure. Hypotheses which attempt to explain the evolution of dimorphism in humans, such as the immunocompetence handicap hypothesis and the male-male competition hypothesis, assume that more dimorphic (i.e. masculine) men have historically achieved greater mating success, resulting in greater reproductive...
Wed Mar 11, 2020 02:00
One of the most widely-used measures for protein evolution is the ratio of nonsynonymous distance (dN) to synonymous distance (dS). Under the assumption that synonymous substitutions in the coding region are selectively neutral, the dN/dS ratio can be used to test the adaptive evolution if dN/dS>1 statistically significantly. However, due to selective constraints imposed on amino acid sites, most encoding genes demonstrate dN/dS<1. As a result, dN/dS of a gene is less than 1, even some sites...
Wed Mar 11, 2020 02:00
Chronic rhinosinusitis (CRS) includes two main phenotypes: without nasal polyps (CRSsNP) and with nasal polyps (CRSwNP). CRS has been reported to be a comorbidity of asthma. Objective The current study aimed to investigate the role of CRS in asthmatic outpatients visited in a real-world setting.
Wed Mar 11, 2020 02:00
Exposure to violence (ETV) and chronic stress may cause or worsen asthma (1). Among Puerto Rican school-aged children, we previously reported that lifetime ETV at the individual or community level is associated with increased risk of asthma (2). In a separate analysis (not accounting for ETV), we showed that high levels of chronic stress are associated with reduced response to short-acting bronchodilators among Puerto Rican children with asthma (3). Based on these findings, we hypothesized that ETV...
Wed Mar 11, 2020 02:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.9b12185
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.0c01283
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.9b13872
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.9b11303
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.9b12457
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.0c01204
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.0c01726
Wed Mar 11, 2020 06:00
Journal of the American Chemical SocietyDOI: 10.1021/jacs.9b12918
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.9b05400
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.9b05435
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.9b05507
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.9b05184
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.0c00402
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.9b04043
Wed Mar 11, 2020 06:00
Analytical ChemistryDOI: 10.1021/acs.analchem.0c00683
Wed Mar 11, 2020 06:00
Oncogenesis, Published online: 10 March 2020; doi:10.1038/s41389-020-0218-zBET protein inhibitor JQ1 downregulates chromatin accessibility and suppresses metastasis of gastric cancer via inactivating RUNX2/NID1 signaling
Tue Mar 10, 2020 02:00
The cover image is based on the Original Article Molecular characterisation of Spanish patients with MECP2 duplication syndrome by Ainhoa Pascual‐Alonso et al., https://doi.org/10.1111/cge.13718. Abstract The cover image is based on the Original Article Molecular characterisation of Spanish patients with MECP2 duplication syndrome by Ainhoa Pascual‐Alonso et al., https://doi.org/10.1111/cge.13718.
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Abstract A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we identified three additional patients homozygous for a novel mutation in B4GALT1, expanding the phenotypic spectrum of the disease. The patients showed a uniform clinical presentation with intellectual disability, marked pancytopenia...
Wed Mar 11, 2020 16:15
Abstract XLαs, the extra‐large isoform of alpha‐subunit of the stimulatory guanine nucleotide‐binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone levels. His serum calcium was in the lower limit of the normal range. Whole exome sequencing of this subject found a novel nonsense variant c.424G > T (p. G142*) in the...
Wed Mar 11, 2020 16:15
The timing of operation for trigonocephaly is recommended before the age of 1 year. To evaluate the outcome of a consecutive series operated in a single centre, the current study was performed. The study cohort comprised a retrospective single-centre series of 20 patients with trigonocephaly operated before the age of 12 months. Intra- and postoperative clinical data, as well as aesthetic outcome measured by two-dimensional asymmetry index (2D AI) and correction of the curvature on lateral and pictures...
Wed Mar 11, 2020 02:00
Actinic cheilitis (AC) is a sun-induced premalignant lesion. AC is a clinical term housing a wide pathological spectrum ranging from hyperkeratosis to invasive squamous cell carcinoma. The aim of this systematic review was to examine the therapeutic efficacy of different approaches in clinical, histological, and cosmetic terms, and the malignization rate after treatment. A systematic search was undertaken in October 2016 and updated in April 2019 at MEDLINE (from 1966), Embase (from 1980), and Proceedings...
Wed Mar 11, 2020 02:00
Operative arthroscopy of the temporomandibular joint requires the insertion of an arthroscope and a working cannula. The surgical instruments are introduced into the joint space via the working cannula, and are visualized by the arthroscope. While the insertion of the arthroscope is relatively easy as anatomical landmarks such as the tragus–canthus line aid the surgeon, the insertion of the working cannula requires the use of advanced techniques and demands higher levels of surgical expertise. Following...
Wed Mar 11, 2020 02:00
The advent of customized three-dimensional (3D) printing allows the affordable manufacturing of sophisticated medical devices, thereby providing swift and simple solutions to specific needs in modern healthcare. Meanwhile, certain devices such as industrial mandibular external fixators (EFs) have become less and less available from medical device companies because of decreased indications. What is more, their handling is often complex. The authors report, step by step, the original design and uneventful...
Wed Mar 11, 2020 02:00
Evidence of Possible Irritable Larynx Syndrome in Obstructive Sleep Apnea: An Epidemiologic Approach
“Irritable larynx syndrome” (ILS) often refers to a constellation of laryngeal-based symptoms including chronic cough (CC), diurnal dyspnea, and dysphonia. In patients with OSA, we examined: (1) the frequency, severity, comorbidity, risks and triggers of each problem, (2) whether these symptoms were compatible with stereotypic ILS and (3) the role of CPAP in their expression.
Wed Mar 11, 2020 02:00
Abstract Background This systematic review aimed to review the literature on interventions for improving self‐management and wellbeing in adolescents and young adults (11‐25 years) with asthma and allergic conditions. Methods A systematic literature search was undertaken across eight databases. References were checked by two reviewers for inclusion. Study data were extracted and their quality was assessed in duplicate. A narrative synthesis was undertaken. Results A total...
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